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Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
Medications for epilepsy are mainstays in controlling epileptic seizures. But surgical procedures are another dimension in treatment. Included in this issue will be articles such as: Laser ablation for hypothalamic hamartomas and other epileptic lesions, radiosurgery for epilepsy, minimally invasive neurosurgery using focused MRI guidance, Selective amygdalohippocampectomy, and many more!
Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
When the first edition of Pediatric Psychopharmacology published in 2002, it filled a void in child and adolescent psychiatry and quickly establishing itself as the definitive text-reference in pediatric psychopharmacology. While numerous short, clinically focused paperbacks have been published since then, no competitors with the scholarly breadth, depth, and luster of this volume have emerged. In the second edition, Christopher Kratochvil, MD, a highly respected expert in pediatric psychopharmacology, joins the outstanding editorial team led by Dr. Martin and Dr. Scahill. In the new edition, the editors streamline the flow of information to reflect the growth in scientific data since the first edition appeared. The overall structure of the book remains the same, with major sections on underlying biology; somatic interventions; assessment and treatment; and special considerations.
This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. - Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics - Identifies key concepts, methods, and findings - Includes coverage of multiple disorders from autism to schizophrenia - Reviews specific genes associated with disorders - Discusses the genetic architecture of these syndromes - Explains how recent findings are influencing the understanding of biology - Clarifies the promise of these findings for future treatment
Readership: Geneticists and clinicians worldwide in addition to graduate students and researchers interested in populations and genomics
Presents genetics and genomic essentials specifically for graduate-level nursesPrenatal care, cardiology, cancer and other disease systems covered in depth by chapter expertsKey chapter devoted to ethical and legal issues and to future technology Designed as both a nursing reference and course text, this book presents genetics and genomic essentials specifically for graduate-level nurses. Preliminary chapters cover the basics of genetics, risk assessment and genetic testing. With chapter contributions by topic experts, the remainder of the book is organized by disease system and covers genetics and genomics in prenatal care, neurology, cancer, respiratory function, cardiology, pharmacogenomics, hematology and others. Key chapters on ethical and legal issues and future technology are also included. This volume is well-suited for nursing faculty, nursing students, nurse leaders, and other nursing professionals with a need for further information on genetics and genomics in a nursing role and across a variety of specialties.
Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more
Part of Mosby's Neurology/Psychiatry Access Series, this new title offers a brief, yet complete overview of the basics of diagnosis and treatment of neurologic problems commonly encountered in the child or adolescent. The open, easy-to-access format makes it ideal for quick reference, while three dozen contributing authors give the reader the fundamental tools needed to make a diagnosis. Includes information on how to assess and evaluate, clinically relevant descriptions of the types of neurologic diseases and disorders, and common clinical problems seen in everyday practice. Diagnosis
For more than 45 years, Muscle Biopsy: A Practical Approach has offered, comprehensive, clinically-focused coverage of the acquisition, interpretation, and assessment of muscle biopsies – an area often only lightly covered in pathology texts. Taking an integrated approach that includes clinical, genetic, biochemical, and pathological features, the 5th Edition covers the full range of muscle disease in both adults and children. This highly illustrated, easy-to-use volume helps you navigate this challenging area, bridging the gap between clinical syndromes/disorders and their underlying pathologies. - Fully updated 5th edition of this internationally acclaimed classic in muscle pathology. - Written by internationally recognized world leaders in the field of muscle pathology. - Comprehensive coverage of histology, histochemistry, immunocytochemistry and electron microscopy in parallel with clinical and genetic advances. - Lavishly illustrated with over 600 full colour images. - Fully updated literature review. - Comprehensive update on the rapidly expanding field of neuromuscular disorders. - 4th edition Highly Commended in Pathology category of the prestigious 2014 BMA Medical Book Awards.